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Hearing loss

Gene: GJB5

Red List (low evidence)

GJB5 (gap junction protein beta 5)
EnsemblGeneIds (GRCh38): ENSG00000189280
EnsemblGeneIds (GRCh37): ENSG00000189280
OMIM: 604493, Gene2Phenotype
GJB5 is in 1 panel

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

GJB5 is not associated with a phenotype entry in OMIM.
Created: 9 Feb 2016, 10:06 a.m.
GJB5 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:42 p.m.

Publications

Details

Sources
  • Expert
OMIM
604493
Clinvar variants
Variants in GJB5
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GJB5 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert